| Gene ID | 3557 |
| Symbol | IL1RN |
| Synonymous | DIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4 |
| Full name | interleukin 1 receptor antagonist |
| Gene description | IL1 inhibitor|IL1RN (IL1F3)|interleukin-1 receptor antagonist protein|intracellular IL-1 receptor antagonist type II|intracellular interleukin-1 receptor antagonist (icIL-1ra)|type II interleukin-1 receptor antagonist |
| Cytoband | 2q14.2 |
| Gene type | protein-coding |
| Synonymous | MIM:147679; HGNC:HGNC:6000; Ensembl:ENSG00000136689; HPRD:00978; Vega:OTTHUMG00000131341 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.400G>A; p.V134I; 2:113132839-113132839 |
skin | malignant_melanoma | Substitution - Missense |
c.289G>A; p.G97S; 2:113132728-113132728 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.196G>A; p.E66K; 2:113131137-113131137 |
breast | carcinoma | Substitution - Missense |
c.388G>A; p.E130K; 2:113132827-113132827 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.263G>A; p.R88H; 2:113132702-113132702 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>G; p.*144W; 2:113132870-113132870 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Nonstop extension |
c.100G>T; p.E34*; 2:113129661-113129661 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.138T>C; p.A46A; 2:113131079-113131079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.417C>T; p.F139F; 2:113132856-113132856 |
skin | malignant_melanoma | Substitution - coding silent |
c.20G>T; p.W7L; 2:113129581-113129581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.173T>C; p.L58P; 2:113131114-113131114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.69T>C; p.A23A; 2:113129630-113129630 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.284A>T; p.D95V; 2:113132723-113132723 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.421G>A; p.E141K; 2:113132860-113132860 |
skin | malignant_melanoma | Substitution - Missense |
c.314C>A; p.A105D; 2:113132753-113132753 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.206T>G; p.L69R; 2:113131147-113131147 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>T; p.S94L; 2:113132720-113132720 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.333C>T; p.F111F; 2:113132772-113132772 |
skin | malignant_melanoma | Substitution - coding silent |
c.278G>A; p.R93H; 2:113132717-113132717 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.268G>A; p.A90T; 2:113132707-113132707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.268G>A; p.A90T; 2:113132707-113132707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.268G>A; p.A90T; 2:113132707-113132707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.149G>A; p.G50E; 2:113131090-113131090 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.31C>T; p.Q11*; 2:113129592-113129592 |
skin | malignant_melanoma | Substitution - Nonsense |
c.83G>A; p.G28E; 2:113129644-113129644 |
skin | malignant_melanoma | Substitution - Missense |
c.376A>G; p.N126D; 2:113132815-113132815 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.392G>A; p.G131D; 2:113132831-113132831 |
skin | malignant_melanoma | Substitution - Missense |
c.186G>T; p.K62N; 2:113131127-113131127 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.190G>T; p.G64C; 2:113131131-113131131 |
breast | carcinoma | Substitution - Missense |
c.331T>G; p.F111V; 2:113132770-113132770 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.162G>T; p.G54G; 2:113131103-113131103 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.264C>T; p.R88R; 2:113132703-113132703 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1-14615G>A; p.?; 2:113113112-113113112 |
skin | malignant_melanoma | Unknown |